Endocrine Abstracts

JOINT1190

Background: Klinefelter Syndrome (KFS) is the most common sex chromosome disorder in males, typically characterized by a 47, XXY karyotype, hypergonadotropic hypogonadism, infertility, and metabolic complications such as insulin resistance and type 2 diabetes. Fibrocalculous Pancreatic Diabetes (FCPD), a unique form of diabetes prevalent in tropical regions, is associated with pancreatic calcification, exocrine insufficiency, and insulin dependence. The coexistence of KFS and FCPD is exceedingly rare, presenting significant challenges in diagnosis and management due to overlapping endocrine and metabolic dysfunctions.

Case Presentation: We report a case of a 48-year-old male with KFS and FCPD. The patient was diagnosed with diabetes mellitus four years prior to hospital admission and presented with progressive weight loss, steatorrhea, and intermittent abdominal pain. Despite intermittent insulin use, he experienced poor glycemic control with an HbA1c of 17.7% and random blood glucose of 500 mg/dL at admission. Clinical evaluation revealed primary infertility, decreased libido, and small, firm testes. Imaging confirmed pancreatic calcifications and ductal dilation, while genetic testing identified a pathogenic SPINK1 gene mutation (N34S 101 A>G). Karyotype analysis established a 47, XXY diagnosis, consistent with KFS. Further investigations revealed primary hypogonadism, osteoporosis, vitamin D deficiency, and low lipid levels. The patient was managed with a basal-bolus insulin regimen, pancreatic enzyme replacement, vitamin supplementation, zoledronic acid for osteoporosis, and testosterone replacement therapy.

Discussion: This case highlights the complex interplay of metabolic and endocrine dysfunction in the rare coexistence of KFS and FCPD. KFS contributes to insulin resistance via increased adiposity and reduced muscle mass, while FCPD adds challenges of pancreatic exocrine insufficiency and insulin dependence. Additionally, hypogonadism in KFS exacerbates metabolic derangements, with testosterone deficiency linked to increased insulin resistance and bone loss. Multidisciplinary management is essential, addressing glycemic control, pancreatic insufficiency, and hormonal replacement.

Conclusions: The coexistence of KFS and FCPD underscores the need for comprehensive evaluation and personalized management of patients with overlapping metabolic and endocrine disorders. This case emphasizes the importance of a multidisciplinary approach integrating insulin therapy, enzyme and vitamin replacement, and testosterone therapy to optimize metabolic outcomes and quality of life.